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Year Number of Results
2002 6
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2005 1
2006 2
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2008 2
2009 3
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2011 5
2012 3
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2014 6
2015 7
2016 3
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2024 9

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90 results

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Page 1
The Genetic Landscape and Epidemiology of Phenylketonuria.
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N. Hillert A, et al. Among authors: muntau ac. Am J Hum Genet. 2020 Aug 6;107(2):234-250. doi: 10.1016/j.ajhg.2020.06.006. Epub 2020 Jul 14. Am J Hum Genet. 2020. PMID: 32668217 Free PMC article.
A noncoding RNA modulator potentiates phenylalanine metabolism in mice.
Li Y, Tan Z, Zhang Y, Zhang Z, Hu Q, Liang K, Jun Y, Ye Y, Li YC, Li C, Liao L, Xu J, Xing Z, Pan Y, Chatterjee SS, Nguyen TK, Hsiao H, Egranov SD, Putluri N, Coarfa C, Hawke DH, Gunaratne PH, Tsai KL, Han L, Hung MC, Calin GA, Namour F, Guéant JL, Muntau AC, Blau N, Sutton VR, Schiff M, Feillet F, Zhang S, Lin C, Yang L. Li Y, et al. Among authors: muntau ac. Science. 2021 Aug 6;373(6555):662-673. doi: 10.1126/science.aba4991. Science. 2021. PMID: 34353949 Free PMC article.
Key European guidelines for the diagnosis and management of patients with phenylketonuria.
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A. van Spronsen FJ, et al. Among authors: muntau ac. Lancet Diabetes Endocrinol. 2017 Sep;5(9):743-756. doi: 10.1016/S2213-8587(16)30320-5. Epub 2017 Jan 10. Lancet Diabetes Endocrinol. 2017. PMID: 28082082 Review.
Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy.
Braun F, Abed A, Sellung D, Rogg M, Woidy M, Eikrem O, Wanner N, Gambardella J, Laufer SD, Haas F, Wong MN, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB. Braun F, et al. Among authors: muntau ac. J Clin Invest. 2023 Jun 1;133(11):e157782. doi: 10.1172/JCI157782. J Clin Invest. 2023. PMID: 37014703 Free PMC article.
Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1.
Barroso M, Gertzen M, Puchwein-Schwepcke AF, Preisler H, Sturm A, Reiss DD, Danecka MK, Muntau AC, Gersting SW. Barroso M, et al. Among authors: muntau ac. Int J Mol Sci. 2023 Aug 24;24(17):13158. doi: 10.3390/ijms241713158. Int J Mol Sci. 2023. PMID: 37685964 Free PMC article.
Systematic literature review of the somatic comorbidities experienced by adults with phenylketonuria.
Whitehall KB, Rose S, Clague GE, Ahring KK, Bilder DA, Harding CO, Hermida Á, Inwood A, Longo N, Maillot F, Muntau AC, Pessoa ALS, Rocha JC, Rohr F, Sivri S, Said J, Oshinbolu S, Sibbring GC. Whitehall KB, et al. Among authors: muntau ac. Orphanet J Rare Dis. 2024 Aug 12;19(1):293. doi: 10.1186/s13023-024-03203-z. Orphanet J Rare Dis. 2024. PMID: 39135125 Free PMC article. Review.
Exome Sequencing in Children.
Mahler EA, Johannsen J, Tsiakas K, Kloth K, Lüttgen S, Mühlhausen C, Alhaddad B, Haack TB, Strom TM, Kortüm F, Meitinger T, Muntau AC, Santer R, Kubisch C, Lessel D, Denecke J, Hempel M. Mahler EA, et al. Among authors: muntau ac. Dtsch Arztebl Int. 2019 Mar 22;116(12):197-204. doi: 10.3238/arztebl.2019.0197. Dtsch Arztebl Int. 2019. PMID: 31056085 Free PMC article.
Two years of pegvaliase in Germany: Experiences and best practice recommendations.
Krämer J, Baerwald C, Heimbold C, Kamrath C, Parhofer KG, Reichert A, Rutsch F, Stolz S, Weinhold N, Muntau AC. Krämer J, et al. Among authors: muntau ac. Mol Genet Metab. 2023 May;139(1):107564. doi: 10.1016/j.ymgme.2023.107564. Epub 2023 Apr 1. Mol Genet Metab. 2023. PMID: 37086569 Free article.
90 results